Validation of a Clinical Screening Grid for Syndromic Schizophrenia
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 发起方
- 入组人数
- 129
- 试验地点
- 2
- 主要终点
- Presence or absence of each criteria from the grid.
研究概览
简要总结
Background:
Nowadays, despite a large number of studies about schizophrenia and genetics, clinical red flags for syndromic forms of schizophrenia remain poorly documented.
详细描述
Methods: This study aims to validate a short clinical screening grid for syndromic forms of schizophrenia linked to a pathogenic Copy Variation Number (CNV). The investigators plan to include 150 patients with defined (DSM V) schizophrenia and aged 15 years and more. The clinical grid will be prospectively fulfilled for every patients on the basis of his/her medical history and clinical examination. Array comparative genomic hybridization (CGH-a) will be performed on jugal mucosae sample to detect precisely syndromic forms of schizophrenia linked to the presence of a pathogenic Copy Number Variation (CNV).
In subjects with no CNV that may explain the onset of schizophrenia, the investigators would like to complete the investigations with exome trio sequencing. With this type of very clinical approach, the investigators wish to determine which semiological elements should alert the psychiatrists as to the presence of a syndromic form. The objective is to propose at the end of this study a simple and reliable scale, usable in psychiatry consultation, to guide the genetic screening of forms of syndromic schizophrenia.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 15 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patient aged 15 years and more with a schizophrenia defined by the DSM V criterion
- •Informed consent signed by the patient or he/she's legal representant
排除标准
- •Pregnancy
- •Current psychotic decompensation
- •Patient with a known genetic syndrome
结局指标
主要结局
Presence or absence of each criteria from the grid.
时间窗: During the inclusion visit (45 minutes)
The following criteria are evaluated: Intelectual disability Precocity of the disease (before 15 years) Treatment resistance Confusion Familial history of schizophrenia Visual hallucination Psychomotor regression Pyramidal syndrome Ataxia Dystonia Areflexia Epilepsia Autism spectrum disorder Dysmorphic features ENT or visceral malformation Growth delay
次要结局
- Presence or absence of a pathogenic CNV detected on the CGH-a(4 months from samples to results)
- Whole exome sequencing(6 months)